Results 81 to 90 of about 7,146 (119)

Drosophila models of phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) mirror patient phenotypes. [PDF]

G3 (Bethesda)
Thorpe HJ, Owings KG, Aziz MC, Haller M, Coelho E, Chow CY.   +5 more
europepmc   +1 more source

PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation: Bella-Noah syndrome. [PDF]

Heliyon
Neves Rebello Alves L, Valle Dos Santos Silveira L, Silva Dos Reis Trabach R, Dummer Meira D, de Vargas Wolfgramm Dos Santos E, Drumond Louro I.   +5 more
europepmc   +1 more source

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Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation

American Journal of Medical Genetics Part A, 2020
AbstractCongenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a ...
Emily M. Bryant, John J. Millichap, Egidio Spinelli, Jeffrey D. Calhoun, Christopher Miller, Jessica Giannelli, Jacqueline Wolak, Victoria Sanders, Gemma L. Carvill, Joel Charrow   +9 more
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Congenital Disorders of Glycosylation

Annual Review of Genomics and Human Genetics, 2001
Congenital disorders of glycosylation (CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystem diseases that include severe brain involvement.
J, Jaeken, G, Matthijs
openaire   +2 more sources

Congenital Disorders of Glycosylation

Advances in Neonatal Care, 2012
Congenital disorders of glycosylation (CDG) are a group of disorders involving a defect in the synthesis of oligosaccharides. Oligosaccharides are fundamental for protein stability and cellular communication and are present in almost every cell in the human body.
Amanda G, Woods, Christopher W, Woods, Timothy M, Snow   +2 more
openaire   +2 more sources

Congenital Disorders of Glycosylation

BIRTH AND GROWTH MEDICAL JOURNAL, 2022
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Lefeber, D.J., Freeze, H.H., Steet, R., Kinoshita, T.   +3 more
openaire   +4 more sources

Congenital disorders of glycosylation

Current Opinion in Pediatrics, 2011
Congenital disorders of glycosylation (CDG) have grown enormously since the discovery of the first protein glycosylation defect in 1980, presenting with a broad clinical spectrum. Expansion in number and complexity of the CDG group has even necessitated a new nomenclature.
Theodore, M., Morava, E., Morava, E.
openaire   +3 more sources

Glycosylation Analysis for Congenital Disorders of Glycosylation

Current Protocols in Human Genetics, 2015
AbstractCongenital disorders of glycosylation (CDG) are a group of diseases with highly variable phenotypes and inconsistent clinical features. Since the first description of a CDG in 1980, approximately 100 disorders have been identified. Most of these are defects in protein glycosylation, although an increasing number are defects of glycolipid or ...
Xueli, Li, Mohd A, Raihan, Francis Jeshira, Reynoso, Miao, He   +3 more
openaire   +2 more sources